(Q37333950)

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Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework

scientific article published on 06 December 2012

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scholarly article

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Europe PubMed Central

PMC publication ID

19 August 2017

5 references

22 April 2019

20 June 2019

22 June 2019

1 October 2020

4 November 2020

Achieving the "triple aim" for inborn errors of metabolism: a review of challenges to outcomes research and presentation of a new practice-based evidence framework (English)

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

inherited metabolic disorder

5 references

22 April 2019

20 June 2019

22 June 2019

1 October 2020

4 November 2020

disease management

1 reference

1 October 2020

health care outcome assessment

1 reference

4 November 2020

14

object named as

Ania Syrowatka

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9

object named as

Julian Little

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Europe PubMed Central

19 August 2017

PMC publication ID

4

object named as

Kumanan Wilson

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Europe PubMed Central

PMC publication ID

19 August 2017

0 references

author name string

Beth K Potter

1

1 reference

Europe PubMed Central

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19 August 2017

Pranesh Chakraborty

2

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Europe PubMed Central

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19 August 2017

Jonathan B Kronick

3

1 reference

Europe PubMed Central

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19 August 2017

Doug Coyle

5

1 reference

Europe PubMed Central

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19 August 2017

Annette Feigenbaum

6

1 reference

Europe PubMed Central

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19 August 2017

Michael T Geraghty

7

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19 August 2017

Maria D Karaceper

8

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19 August 2017

Aizeddin Mhanni

10

1 reference

Europe PubMed Central

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19 August 2017

John J Mitchell

11

1 reference

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19 August 2017

Komudi Siriwardena

12

1 reference

Europe PubMed Central

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19 August 2017

Brenda J Wilson

13

1 reference

Europe PubMed Central

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19 August 2017

Ania Syrowatka

14

1 reference

Europe PubMed Central

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19 August 2017

Canadian Inherited Metabolic Diseases Research Network

15

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Europe PubMed Central

PMC publication ID

19 August 2017

language of work or name

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publication date

6 December 2012

1 reference

Europe PubMed Central

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19 August 2017

1 June 2013

5 references

22 April 2019

20 June 2019

22 June 2019

1 October 2020

4 November 2020

Genetics in Medicine

6 references

Europe PubMed Central

PMC publication ID

19 August 2017

22 April 2019

20 June 2019

22 June 2019

1 October 2020

4 November 2020

15

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

6

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

415-422

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

copyright license

Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported

5 references

Europe PubMed Central

22 April 2019

Europe PubMed Central

20 June 2019

Europe PubMed Central

22 June 2019

Europe PubMed Central

1 October 2020

Europe PubMed Central

4 November 2020

on focus list of Wikimedia project

0 references

Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease.

1 reference

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Optimising growth in phenylketonuria: current state of the clinical evidence base.

1 reference

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9 September 2017

Non-PKU mild hyperphenylalaninemia (MHP)--the dilemma

1 reference

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Phenylalanine hydroxylase deficiency

1 reference

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A framework for applying unfamiliar trial designs in studies of rare diseases

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Diagnosis and management of glutaric aciduria type I--revised recommendations

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Orthopaedic management of Hurler's disease after hematopoietic stem cell transplantation: a systematic review.

1 reference

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9 September 2017

Mild hyperphenylalaninemia: to treat or not to treat

1 reference

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Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects

1 reference

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Cognitive and adaptive functioning after liver transplantation for maple syrup urine disease: a case series.

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Individual (N-of-1) trials can be combined to give population comparative treatment effect estimates: methodologic considerations

1 reference

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9 September 2017

Current issues regarding treatment of mitochondrial fatty acid oxidation disorders

1 reference

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9 September 2017

Pathophysiology of fatty acid oxidation disorders

1 reference

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9 September 2017

Assessing and reporting heterogeneity in treatment effects in clinical trials: a proposal

1 reference

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9 September 2017

Suboptimal outcomes in patients with PKU treated early with diet alone: Revisiting the evidence

1 reference

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9 September 2017

Patient-Centered Outcomes Research Institute: the intersection of science and health care

1 reference

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9 September 2017

Sapropterin dihydrochloride for phenylketonuria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837195

9 September 2017

Mitochondrial fatty acid oxidation disorders: clinical presentation of long-chain fatty acid oxidation defects before and after newborn screening

1 reference

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9 September 2017

New insights in nutritional management and amino acid supplementation in urea cycle disorders

1 reference

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9 September 2017

The International LAM Registry: a component of an innovative web-based clinician, researcher, and patient-driven rare disease research platform.

1 reference

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9 September 2017

Current concepts in the pathogenesis of urea cycle disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837195

9 September 2017

Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837195

9 September 2017

Liver, liver cell and stem cell transplantation for the treatment of urea cycle defects

1 reference

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9 September 2017

Outcomes beyond phenylalanine: an international perspective

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837195

9 September 2017

Psychosocial aspects of PKU: hidden disabilities--a review.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837195

9 September 2017

Classical maple syrup urine disease and brain development: principles of management and formula design

1 reference

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9 September 2017

Fatty acid oxidation disorders: outcome and long-term prognosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837195

9 September 2017

Guidelines for the management of mucopolysaccharidosis type I.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837195

9 September 2017

Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837195

9 September 2017

Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3837195

9 September 2017

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

1 reference

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9 September 2017

Mucopolysaccharidosis I: management and treatment guidelines

1 reference

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Clinical research for rare disease: opportunities, challenges, and solutions

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9 September 2017

New standards and enhanced utility for family health history information in the electronic health record: an update from the American Health Information Community's Family Health History Multi-Stakeholder Workgroup

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9 September 2017

Why rare diseases are an important medical and social issue

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9 September 2017

Adaptive design methods in clinical trials - a review

1 reference

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9 September 2017

The clinical outcome of Hurler syndrome after stem cell transplantation.

1 reference

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9 September 2017

Neurological implications of urea cycle disorders

1 reference

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Newborn screening: After the thrill is gone

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9 September 2017

National collaborative study groups: structure, benefits gained and potential for rare genetic diseases

1 reference

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9 September 2017

Evidence-based medicine, heterogeneity of treatment effects, and the trouble with averages

1 reference

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9 September 2017

Variability in the clinical management of fatty acid oxidation disorders: results of a survey of Canadian metabolic physicians

1 reference

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14 September 2017

Practice-based research--"Blue Highways" on the NIH roadmap

1 reference

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14 September 2017

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood

1 reference

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14 September 2017

Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State

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Expanded newborn screening: outcome in screened and unscreened patients at age 6 years.

1 reference

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Thoroughly modern medicine.

1 reference

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The inborn errors of metabolism information system: A project of the Region 4 Genetics Collaborative Priority 2 Workgroup.

1 reference

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2 September 2018

Practice based evidence: incorporating clinical heterogeneity and patient-reported outcomes for comparative effectiveness research

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Psychiatric symptoms and disorders in phenylketonuria

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Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop

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A 25-year longitudinal analysis of treatment efficacy in inborn errors of metabolism.

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The triple aim: care, health, and cost

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1 reference

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Phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/23222662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure

1 reference

https://pubmed.ncbi.nlm.nih.gov/23222662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/23222662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical trials: curing a critical deficiency in metabolic medicine

1 reference

https://pubmed.ncbi.nlm.nih.gov/23222662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Living donor liver transplantation for ornithine transcarbamylase deficiency

1 reference

https://pubmed.ncbi.nlm.nih.gov/23222662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study

1 reference

https://pubmed.ncbi.nlm.nih.gov/23222662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Evidence based medicine in inborn errors of metabolism: is there any and how to find it

1 reference

https://pubmed.ncbi.nlm.nih.gov/23222662

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1038/GIM.2012.153

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

ResearchGate publication ID

0 references

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